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Zusammenfassung. Dissoziative Amnesie verläuft unter Umständen chronisch und kann zu lebenslanger Arbeitsunfähigkeit führen. Die Krankheit tritt gehäuft im Zusammenhang mit Migration auf und verläuft dann schwerer als in anderen Fällen. Sie ist im Grunde reversibel, d. h., der Abruf der Gedächtnisinhalte ist nur blockiert. Betroffen sind Patienten, die nicht verarbeitete Stress- und Traumaerlebnisse als Hintergrund haben und dann ein erneutes Stresserlebnis erfahren, welches zum dissoziativen Amnesiezustand führt. Es wird postuliert, dass in erster Linie Patienten betroffen sind, die im neuen Heimatland nicht ausreichend und ihrem Anspruch entsprechend Fuß fassen konnten. Mangelnde Sprachkenntnisse und eine nicht den Erwartungen entsprechende neue Arbeitssituation sind am ehesten als Gründe anzuführen.

Background According to experimental and clinical published studies, patients with keratoconus have a genetic predisposition to corneal ectasia; however, ectasia might not be activated or reactivated unless an additional stressful event triggers the disease. Triggering factors are sources of reactive oxidative stress; among them, mechanical trauma (vigorous eye rubbing, poorly fit contact lenses), exposure to ultraviolet light, and atopy/allergies. The aim of this case report is to present for the first time a case of rapidly progressive corneal ectasia in a patient with keratoconus following uncomplicated phacoemulsification surgery for cataract removal. Case presentation A 38-year-old Caucasian man was referred to our out-patient’s service due to bilateral cataract. He also had bilateral keratoconus and had undergone corneal cross-linking in both his eyes 5 years prior to his referral. Ever since the corneal cross-linking, keratoconus had been stable. He underwent a full ophthalmological examination including slit-lamp biomicroscopy, optical biometry, Scheimpflug tomography, corneal biomechanical assessment, and fundus examination. He presented advanced centrally located cataract with count fingers for preoperative best-corrected visual acuity. An uncomplicated cataract extraction surgery was performed. Preoperative flat keratometry reading was 40.5 diopters, steep keratometry reading was 41.8 diopters, astigmatism was 1.3 diopters, corneal hysteresis was 8.2, corneal resistance factor was 7.5, and thinnest corneal thickness was 503 μm. Within 3 months, he demonstrated rapidly progressing corneal ectasia in his operated eye, while 6 months postoperatively, flat keratometry reading was 45.5 diopters, steep keratometry reading was 48.3 diopters, astigmatism was 2.8 diopters, corneal hysteresis = 6.8, corneal resistance factor = 7.5, and thinnest corneal thickness = 318 μm. Conclusions To the best of our knowledge, this is the first report to describe corneal ectasia in a patient with keratoconus following phacoemulsification surgery. Cataract surgeons should provide extra caution to patients with keratoconus and take into consideration this rare but potentially sight-threatening complication.

On July 10, 2016, Alfred G. Knudson, Jr., MD, PhD, a leader in cancer research, died at the age of 93 years. We deeply mourn his loss. Knudson's two‐hit hypothesis, published in 1971, has been fundamental for understanding tumor suppressor genes and familial tumor‐predisposing syndromes. To understand the molecular mechanism of two‐hit‐initiated tumorigenesis, Knudson used an animal model of a dominantly inherited tumor, the Eker rat. From the molecular identification of Tsc2 germline mutations, the Eker rat became a model for tuberous sclerosis complex (TSC), a familial tumor‐predisposing syndrome. Animal models, including the fly, have greatly contributed to TSC research. Because the product of the TSC2/Tsc2 gene (tuberin) together with hamartin, the product of another TSC gene (TSC1/Tsc1), suppresses mammalian/mechanistic target of rapamycin complex 1 (mTORC1), rapalogs have been used as therapeutic drugs for TSC. Although significant activity of these drugs has been reported, there are still problems such as recurrence of residual tumors and adverse effects. Recent studies indicate that there are mTORC1‐independent signaling pathways downstream of hamartin/tuberin, which may represent new therapeutic targets. The establishment of cellular models, such as pluripotent stem cells with TSC2/Tsc2 gene mutations, will facilitate the understanding of new aspects of TSC pathogenesis and the development of novel treatment options. In this review, we look back at the history of Knudson and animal models of TSC and introduce recent progress in TSC research.

Neonatal seizures have been associated with the later development of postneonatal epilepsy, mainly beginning within the first year of life. Mechanisms of epileptogenesis in the immature brain still need to be fully elucidated but a two-hit hypothesis, showing that an early insult heightens later susceptibility to seizure-induced brain damage, has been demonstrated in animal models. We describe 2 cases of preterm babies sustaining recurrent neonatal seizures in the context of a severe perinatal brain damage who presented with symptomatic epilepsy only after the occurrence of an episode of febrile status epilepticus. In the context of preexisting perinatal brain damage, febrile status epilepticus acted as a second hit for developing epilepsy, confirming animal evidence.

Summary Purpose Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletions and point mutations of the neurexin 1 (NRXN1) gene have been associated with a broad spectrum of neuropsychiatric disorders. This study aimed to investigate if NRXN1 deletions also increase the risk of idiopathic generalized epilepsies (IGEs). Methods We screened for deletions involving the NRXN1 gene in 1,569 patients with IGE and 6,201 controls using high-density oligonucleotide microarrays. Key Findings We identified exon-disrupting deletions of NRXN1 in 5 of 1,569 patients with IGE and 2 of 6,201 control individuals (p = 0.0049; odds ratio (OR) 9.91, 95% confidence interval (CI) 1.92–51.12). A complex familial segregation pattern in the IGE families was observed, suggesting that heterozygous NRXN1 deletions are susceptibility variants. Intriguingly, we identified a second large copy number variant in three of five index patients, supporting an involvement of heterogeneous susceptibility alleles in the etiology of IGE. Significance We conclude that exon-disrupting deletions of NRXN1 represent a genetic risk factor in the genetically complex predisposition of common IGE syndromes.